نتایج جستجو برای: deletion
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duchenne muscular dystrophy (dmd) and the milder allelic becker muscular dystrophy (bmd) are x-linked disorders. both dmd & bmd result from heterogenous mutation in the dystrophin gene and in about 65% of the cases one or more exons of the gene are deleted or duplicated. one third of cases arise from new mutation and the rest are familial. to analyze the prevalence of deletion in iranian patien...
in financial distress studies selection of variable is commonly basedon the success of variables in variable sets employed in earlierbankruptcy studies, suggestions in the literature or an accompanyingdata reduction in a large set of variables. if seemingly different variablesets exhibit a strong relationship then heterogeneous variable setscapture common information. canonical correlation anal...
angiotensin i-converting enzyme (ace) gene polymorphism; genotype dd or d allele may be involved with an increased susceptibility to type 2 diabetes and diabetic nephropathy (dn). we examined the frequency of ace gene polymorphism in 170 patients (85 type 2 diabetes with nephropathy and 85 without it) in tehran, iran. dna was extracted from the white blood cells and the i/d polymorphism of the ...
a 9 bp deletion between cytochrome oxidase subunit ii and trna lys genes in mitochondrial dna, has proven to be an extremely informative marker for tracing population history. using the pcr-page and pcr-sscp techniques in this study, 152 dna samples collected from iranian populations were screened for the 9 bp deletion. no deletion was observed. a length polymorphism, most probably a 9 bp tripl...
introduction cri du chat syndrome is a rare genetic disorder due to deletion of variable length of short arm of chromosome 5(5p). it mainly presents with typical cat like cry, facial dysmorphism, poor growth with feeding problems and severe cognitive, speech, and motor delays. case report we present here a one year old child who did not presented with typical features but presented with recurre...
Background and Aim:-thalassemia is the most common inherited disorder of hemoglobin (Hb) synthesis in the world. Alpha thalassemia most frequently results from the loss of one (- ) or both (- -) of the duplicated genes () on chromosome 16. Carriers of deletional forms of -thalassemia (-/- /-, or --/) are clinically normal but have a mild hypochromic, microcytic anemia. C...
Background and Aim: A peptic ulcer is a breach in the gastric or duodenal mucosa down to the submucosa. There is evidence concerning the role of Reactive Oxygen Species (ROS) in the genesis of such ulcers production of intracellular ROS along mitochondria oxidative phosphorylation (OXPHOS) predisposes the deletion of 4977 bp mtDNA. The aim of the present study was to evaluate the association of...
In order to study the effect of incomplete sire's pedigree on genetic trend (bBv,y) and gain (R) of quantitative trait, two population were simulated with the heritability 0.15 and 0.30. For each population, information resulted from ten years of selection were saved in different files. In generated data files, the sire numbers were eliminated from pedigree file with 0, 10, 20, …, 100 percentag...
Objective Globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. Researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of DPY19L2 or mutations in SPATA16 and PICK1 genes associated with globozoospermia. The aim of this study was to analyze the DPY19L2 gene deletion using polymerase chain reaction technique for th...
Colorectal cancer (CRC) is the third leading cause of cancer-related death worldwide, and its occurrence can be ascribed to genetic susceptibility. Mitochondrial DNA 4977-bp (mtDNA 4977), as the most described mtDNA deletion, has been long proposed to be involved in various types of cancers. However, a few studies on mtDNA 4977-bp deletion in Iranian patients with CRC have been reported. The cu...
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